Mutagenetix > Incidental Mutation

Incidental Mutation 'R0555:Gba2'

45449

Institutional Source

Beutler Lab

Gene Symbol

Gba2

Ensembl Gene

ENSMUSG00000028467

Gene Name

glucosidase beta 2

Synonyms

bile acid

MMRRC Submission

038747-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0555 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43566928-43578873 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43569927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 429 (G429C)

Ref Sequence

ENSEMBL: ENSMUSP00000030189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030189] [ENSMUST00000102944] [ENSMUST00000130443] [ENSMUST00000132631] [ENSMUST00000167751]

AlphaFold

Q69ZF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000030189
AA Change: G429C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030189
Gene: ENSMUSG00000028467
AA Change: G429C

Domain	Start	End	E-Value	Type
Pfam:GBA2_N	142	446	9.4e-106	PFAM
Pfam:DUF608	512	879	1.3e-153	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102944

SMART Domains

Protein: ENSMUSP00000100008
Gene: ENSMUSG00000028466

Domain	Start	End	E-Value	Type
low complexity region	54	83	N/A	INTRINSIC
low complexity region	132	147	N/A	INTRINSIC
BRLZ	158	222	2.03e-15	SMART
low complexity region	240	253	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128403

Predicted Effect

probably benign
Transcript: ENSMUST00000130443

SMART Domains

Protein: ENSMUSP00000119589
Gene: ENSMUSG00000028467

Domain	Start	End	E-Value	Type
Pfam:GBA2_N	142	180	5.6e-13	PFAM
Pfam:GBA2_N	178	227	1.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144968

Predicted Effect

probably benign
Transcript: ENSMUST00000167751

SMART Domains

Protein: ENSMUSP00000129401
Gene: ENSMUSG00000028466

Domain	Start	End	E-Value	Type
low complexity region	54	83	N/A	INTRINSIC
low complexity region	156	171	N/A	INTRINSIC
BRLZ	182	246	2.03e-15	SMART
low complexity region	264	277	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (98/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit accumulation of glucosylceramides in multiple tissues, and show impaired male fertility associated with globozoospermia, oligozoospermia, reduced sperm motility, and male germ cell apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	A	9: 70,661,516 (GRCm39)	I363N	probably damaging	Het
Ahcyl2	T	C	6: 29,890,670 (GRCm39)		probably benign	Het
Asap1	A	G	15: 63,966,213 (GRCm39)	L941P	probably damaging	Het
Aurka	G	A	2: 172,209,067 (GRCm39)	R23C	probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Casp8ap2	T	A	4: 32,640,381 (GRCm39)	H478Q	probably damaging	Het
Clcn4	C	T	7: 7,293,503 (GRCm39)	A418T	possibly damaging	Het
Cplx3	T	C	9: 57,521,384 (GRCm39)	T193A	probably benign	Het
Cpxm2	A	T	7: 131,645,772 (GRCm39)	Y715*	probably null	Het
Csmd1	T	C	8: 16,235,287 (GRCm39)	M1179V	probably benign	Het
Ddx21	A	T	10: 62,423,307 (GRCm39)	F632I	probably damaging	Het
Dnai1	C	A	4: 41,625,335 (GRCm39)	T433K	possibly damaging	Het
Dpyd	G	A	3: 119,225,191 (GRCm39)	G988D	probably damaging	Het
Dync1i2	AAAAGAAGAGGAAAGAAGAGGAAAG	AAAAGAAGAGGAAAG	2: 71,044,862 (GRCm39)		probably null	Het
Dync1li2	A	T	8: 105,147,297 (GRCm39)	S466T	probably benign	Het
Ears2	T	C	7: 121,647,667 (GRCm39)	T206A	probably benign	Het
Elmod1	A	T	9: 53,838,876 (GRCm39)		probably benign	Het
Eps8l3	C	A	3: 107,799,661 (GRCm39)	D590E	probably benign	Het
Etfdh	A	T	3: 79,513,112 (GRCm39)	H370Q	probably benign	Het
Fam83g	C	A	11: 61,598,489 (GRCm39)	A792E	probably benign	Het
Ffar3	G	T	7: 30,554,962 (GRCm39)	Y119*	probably null	Het
Fosb	G	T	7: 19,041,138 (GRCm39)	S118R	possibly damaging	Het
Foxn4	G	A	5: 114,401,175 (GRCm39)	L3F	probably damaging	Het
Foxo4	A	G	X: 100,298,784 (GRCm39)	K65E	probably damaging	Het
Frem2	A	G	3: 53,424,281 (GRCm39)	L3052P	probably damaging	Het
Fubp3	G	A	2: 31,498,149 (GRCm39)	R101H	probably damaging	Het
Gimap1	T	C	6: 48,718,363 (GRCm39)		probably benign	Het
Gnas	A	G	2: 174,140,304 (GRCm39)	T158A	possibly damaging	Het
Gpc5	T	C	14: 115,789,740 (GRCm39)	V538A	probably damaging	Het
Greb1l	T	C	18: 10,458,781 (GRCm39)		probably benign	Het
H2-M10.5	G	A	17: 37,085,620 (GRCm39)	G260R	probably damaging	Het
Hbs1l	A	C	10: 21,225,222 (GRCm39)	Q412H	probably benign	Het
Hecw1	G	T	13: 14,411,526 (GRCm39)	T1058N	probably damaging	Het
Heph	A	T	X: 95,601,690 (GRCm39)	T1027S	probably damaging	Het
Hoga1	A	C	19: 42,034,514 (GRCm39)	E53A	possibly damaging	Het
Insrr	T	G	3: 87,721,744 (GRCm39)		probably benign	Het
Ipo11	A	T	13: 107,028,969 (GRCm39)	V328D	probably damaging	Het
Jakmip1	T	C	5: 37,276,217 (GRCm39)	V509A	probably damaging	Het
Jmjd1c	T	C	10: 67,061,568 (GRCm39)	V1307A	probably benign	Het
Kmt2a	T	A	9: 44,758,868 (GRCm39)	S1027C	probably damaging	Het
Kprp	G	C	3: 92,731,664 (GRCm39)	P462R	unknown	Het
Lrit3	A	T	3: 129,584,945 (GRCm39)	V271D	probably damaging	Het
Map4	T	A	9: 109,808,171 (GRCm39)		probably benign	Het
Mark4	A	C	7: 19,182,598 (GRCm39)		probably benign	Het
Mfsd14b	A	G	13: 65,226,259 (GRCm39)	V142A	probably benign	Het
Mis18bp1	A	T	12: 65,208,227 (GRCm39)	I162N	possibly damaging	Het
Mrpl43	A	T	19: 44,994,391 (GRCm39)		probably benign	Het
Mrpl47	A	G	3: 32,790,842 (GRCm39)	F16S	probably benign	Het
Myh2	G	T	11: 67,069,793 (GRCm39)	G380C	probably damaging	Het
Myo15a	T	C	11: 60,412,464 (GRCm39)	Y3284H	probably damaging	Het
Nectin2	A	G	7: 19,467,148 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,463,390 (GRCm39)	V111A	probably damaging	Het
Nol4l	T	C	2: 153,259,604 (GRCm39)		probably null	Het
Nphp3	C	A	9: 103,900,633 (GRCm39)	H510Q	probably damaging	Het
Nprl3	T	A	11: 32,183,118 (GRCm39)		probably null	Het
Or14c39	A	G	7: 86,344,516 (GRCm39)	N284S	probably damaging	Het
Or4c58	T	C	2: 89,674,787 (GRCm39)	T177A	probably benign	Het
Or52ab7	T	C	7: 102,978,170 (GRCm39)	V159A	probably benign	Het
Or6c2	T	C	10: 129,362,765 (GRCm39)	I223T	possibly damaging	Het
Pex1	A	G	5: 3,656,130 (GRCm39)	E319G	possibly damaging	Het
Pgap6	T	C	17: 26,336,088 (GRCm39)	L130S	probably benign	Het
Phtf1	C	A	3: 103,911,785 (GRCm39)	T709K	probably damaging	Het
Plek2	A	T	12: 78,938,946 (GRCm39)	L271Q	probably damaging	Het
Plekhg5	T	A	4: 152,191,926 (GRCm39)	C421*	probably null	Het
Polk	A	C	13: 96,620,687 (GRCm39)	C525W	probably damaging	Het
Ppfibp2	T	C	7: 107,328,381 (GRCm39)	S471P	probably damaging	Het
Prickle2	A	T	6: 92,435,546 (GRCm39)	F74L	probably benign	Het
Prl7d1	A	T	13: 27,896,038 (GRCm39)	V113D	probably benign	Het
Prr14	C	T	7: 127,071,267 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ret	A	G	6: 118,155,571 (GRCm39)	V375A	probably damaging	Het
Rora	T	C	9: 69,269,028 (GRCm39)	F41S	probably damaging	Het
Sall1	T	C	8: 89,758,386 (GRCm39)	T573A	probably benign	Het
Shb	A	G	4: 45,458,321 (GRCm39)	V281A	possibly damaging	Het
Slc25a26	A	T	6: 94,569,391 (GRCm39)		probably null	Het
Sltm	T	C	9: 70,493,363 (GRCm39)	F769L	probably damaging	Het
Snx9	T	A	17: 5,968,688 (GRCm39)	M328K	probably damaging	Het
Stk25	G	T	1: 93,552,313 (GRCm39)	Q356K	probably benign	Het
Svep1	T	A	4: 58,128,858 (GRCm39)	Y613F	possibly damaging	Het
Syne4	G	A	7: 30,016,169 (GRCm39)	A195T	probably damaging	Het
Tmem217b	A	T	17: 29,738,545 (GRCm39)	F74I	probably benign	Het
Trcg1	C	T	9: 57,149,616 (GRCm39)	T396M	probably damaging	Het
Trim30b	A	G	7: 104,006,505 (GRCm39)	V117A	possibly damaging	Het
Trpc4	T	C	3: 54,209,511 (GRCm39)		probably benign	Het
Ttll4	A	G	1: 74,727,439 (GRCm39)	H827R	probably damaging	Het
Tut7	A	G	13: 59,948,131 (GRCm39)	V328A	probably benign	Het
Urgcp	T	C	11: 5,667,477 (GRCm39)	E287G	probably damaging	Het
Usp2	G	T	9: 44,004,081 (GRCm39)	L319F	probably damaging	Het
Vmn1r167	A	T	7: 23,204,512 (GRCm39)	V168D	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r61	A	T	7: 41,915,442 (GRCm39)	I130F	probably benign	Het
Vmn2r63	A	T	7: 42,577,952 (GRCm39)	Y195*	probably null	Het
Vmn2r81	T	C	10: 79,129,283 (GRCm39)	S725P	probably damaging	Het
Wnt10b	A	G	15: 98,670,818 (GRCm39)		probably benign	Het
Zfp292	T	C	4: 34,807,194 (GRCm39)	E1950G	probably damaging	Het
Zfyve16	A	G	13: 92,653,028 (GRCm39)		probably benign	Het

Other mutations in Gba2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Gba2	APN	4	43,568,477 (GRCm39)	missense	probably damaging	1.00
IGL01577:Gba2	APN	4	43,573,753 (GRCm39)	nonsense	probably null
IGL02066:Gba2	APN	4	43,570,175 (GRCm39)	missense	probably benign	0.18
IGL02126:Gba2	APN	4	43,567,918 (GRCm39)	critical splice acceptor site	probably null
IGL02243:Gba2	APN	4	43,568,719 (GRCm39)	missense	probably benign	0.13
IGL02474:Gba2	APN	4	43,568,538 (GRCm39)	missense	possibly damaging	0.69
IGL02567:Gba2	APN	4	43,567,281 (GRCm39)	missense	probably benign
IGL02628:Gba2	APN	4	43,568,919 (GRCm39)	missense	probably benign	0.01
IGL02706:Gba2	APN	4	43,567,257 (GRCm39)	missense	probably benign	0.01
IGL02795:Gba2	APN	4	43,578,331 (GRCm39)	missense	probably damaging	1.00
R0389:Gba2	UTSW	4	43,570,832 (GRCm39)	missense	probably damaging	1.00
R0650:Gba2	UTSW	4	43,570,424 (GRCm39)	splice site	probably null
R1603:Gba2	UTSW	4	43,567,823 (GRCm39)	missense	probably damaging	1.00
R1628:Gba2	UTSW	4	43,570,118 (GRCm39)	missense	probably benign	0.00
R1664:Gba2	UTSW	4	43,578,080 (GRCm39)	missense	probably benign	0.01
R1686:Gba2	UTSW	4	43,573,869 (GRCm39)	splice site	probably benign
R1730:Gba2	UTSW	4	43,578,242 (GRCm39)	missense	probably benign	0.01
R2036:Gba2	UTSW	4	43,568,118 (GRCm39)	unclassified	probably benign
R2061:Gba2	UTSW	4	43,574,029 (GRCm39)	nonsense	probably null
R2259:Gba2	UTSW	4	43,570,107 (GRCm39)	missense	probably benign
R2847:Gba2	UTSW	4	43,568,000 (GRCm39)	splice site	probably null
R3026:Gba2	UTSW	4	43,578,308 (GRCm39)	missense	possibly damaging	0.95
R3617:Gba2	UTSW	4	43,573,803 (GRCm39)	missense	probably damaging	1.00
R4225:Gba2	UTSW	4	43,569,464 (GRCm39)	unclassified	probably benign
R4346:Gba2	UTSW	4	43,571,337 (GRCm39)	missense	probably benign	0.04
R4601:Gba2	UTSW	4	43,573,810 (GRCm39)	missense	probably damaging	1.00
R4611:Gba2	UTSW	4	43,568,092 (GRCm39)	missense	probably damaging	1.00
R4664:Gba2	UTSW	4	43,568,619 (GRCm39)	unclassified	probably benign
R4784:Gba2	UTSW	4	43,568,315 (GRCm39)	missense	probably damaging	1.00
R4785:Gba2	UTSW	4	43,568,315 (GRCm39)	missense	probably damaging	1.00
R5079:Gba2	UTSW	4	43,568,640 (GRCm39)	unclassified	probably benign
R5327:Gba2	UTSW	4	43,574,063 (GRCm39)	missense	probably damaging	1.00
R5746:Gba2	UTSW	4	43,568,465 (GRCm39)	splice site	probably null
R6052:Gba2	UTSW	4	43,568,330 (GRCm39)	missense	probably damaging	1.00
R6485:Gba2	UTSW	4	43,574,118 (GRCm39)	missense	probably damaging	1.00
R7073:Gba2	UTSW	4	43,573,753 (GRCm39)	missense	probably damaging	1.00
R7112:Gba2	UTSW	4	43,568,453 (GRCm39)	missense	probably benign	0.01
R7472:Gba2	UTSW	4	43,568,967 (GRCm39)	missense	probably benign	0.44
R8220:Gba2	UTSW	4	43,568,510 (GRCm39)	missense	probably damaging	1.00
R8315:Gba2	UTSW	4	43,569,937 (GRCm39)	frame shift	probably null
R8476:Gba2	UTSW	4	43,569,944 (GRCm39)	missense	probably damaging	0.98
R8477:Gba2	UTSW	4	43,569,944 (GRCm39)	missense	probably damaging	0.98
R8794:Gba2	UTSW	4	43,568,077 (GRCm39)	missense	probably damaging	0.98
R9087:Gba2	UTSW	4	43,568,304 (GRCm39)	missense	probably benign	0.09
R9193:Gba2	UTSW	4	43,578,112 (GRCm39)	missense	probably benign	0.26
R9753:Gba2	UTSW	4	43,568,716 (GRCm39)	missense	probably damaging	1.00
RF007:Gba2	UTSW	4	43,569,894 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTACCAGGCAGGCAAGGTTC -3'
(R):5'- GCGTCTCTAGCAAGCTGTTACCTC -3'

Sequencing Primer
(F):5'- GCTTTATGAGCCTCCCAGGATAG -3'
(R):5'- TAGCAAGCTGTTACCTCGAAGC -3'

Posted On

2013-06-11